Mitochondrial dysfunction in neuromuscular disorders

Seminars in Pediatric Neurology

Volumn 20, Issue 3, 2013, Pages 202-215

  Katsetos, Christos D ^a,b   Koutzaki, Sirma ^b   Melvin, Joseph J ^a,b  

^a ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ANTIRETROVIRUS AGENT; CALPAIN 3; CYCLOSPORIN A; RNA DIRECTED DNA POLYMERASE INHIBITOR; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE; ZIDOVUDINE;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CALPAIN 3 GENE; CELL INCLUSION; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CHEMOTHERAPY INDUCED PERIPHERAL NEUROPATHY; CHOLINE KINASE BETA GENE; DIABETIC NEUROPATHY; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG INDUCED DISEASE; DRUG TARGETING; DUCHENNE MUSCULAR DYSTROPHY; ENZYME ACTIVITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FRIEDREICH ATAXIA; GENE; GENE MUTATION; GENETIC DISORDER; HEART FAILURE; HEREDITARY INCLUSION BODY MYOPATHY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INCLUSION BODY MYOSITIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MELANOCYTE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL PERMEABILITY; MITOCHONDRIAL TOXICITY; MITOCHONDRION; MITOPHAGY; MUSCLE ATROPHY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; POLYMYOSITIS; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

ANIMALS; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MOLECULAR TARGETED THERAPY; NEUROMUSCULAR DISEASES;

EID: 84890154433     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2013.10.010     Document Type: Article

References (132)

1. Allison WS, Scheffler I (eds.): Mitochondrial Function, Part A, Volume 456: Mitochondrial Electron Transport Complexes and Reactive Oxygen Species (Methods in Enzymology). (1st ed). Amsterdam: Academic Press, 2009.
2. Rowland L.P., Blake D.M., Hirano M., et al. Clinical syndromes associated with ragged red fibers. Rev Neurol 1991, 147:467-473.
3. DiMauro S., Bonilla E., Davidson M., et al. Mitochondria in neuromuscular disorders. Biochim Biophys Acta 1998, 1366:199-210.
4. Gimeno A., Trueba J.L., Blanco M., et al. Mitochondrial functions in five cases of human neuromuscular disorders. J Neurol Neurosurg Psychiatry 1973, 36:806-812.
5. Yamamoto M., Koga Y., Ohtaki E., et al. Focal cytochrome c oxidase deficiency in various neuromuscular diseases. J Neurol Sci 1989, 91:207-213.
6. Sperl W., Skladal D., Gnaiger E., et al. High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Mol Cell Biochem 1997, 174:71-78.
7. Jongpiputvanich S., Sueblinvong T., Norapucsunton T. Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. J Clin Neurosci 2005, 12:426-428.
8. Bernardi P. Mitochondria in muscle cell death. Ital J Neurol Sci 1999, 20:395-400.
9. 2+ as a key regulator of cell life and death. Cell Death Differ 2007, 14:1267-1274.
10. Angelin A., Bonaldo P., Bernardi P. Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. Biochim Biophys Acta 2008, 1777:893-896.
11. Merlini L., Angelin A., Tiepolo T., et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A 2008, 105:5225-5229.
12. Bernardi P., Bonaldo P. Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. Ann N Y Acad Sci 2008, 1147:303-311.
13. Sabatelli P., Palma E., Angelin A., et al. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. J Cell Physiol 2012, 227:2927-2935.
14. Bernardi P., Bonaldo P. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harb Perspect Biol 2013, 5:a011387.
15. Mitsuhashi S., Ohkuma A., Talim B., et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 2011, 88:845-851.
16. Mitsuhashi S., Nishino I. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. Curr Opin Neurol 2013, 26:536-543.
17. Gutiérrez Ríos P., Kalra A.A., Wilson J.D., et al. Congenital megaconial myopathy due to a novel defect in the choline kinase β gene. Arch Neurol 2012, 69:657-661.
18. Quinlivan R., Mitsuahashi S., Sewry C., et al. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. Neuromuscul Disord 2013, 23:549-556.
19. Angelin A., Tiepolo T., Sabatelli P., et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A 2007, 104:991-996.
20. Grumati P., Coletto L., Sabatelli P., et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010, 16:1313-1320.
21. Telfer W.R., Busta A.S., Bonnemann C.G., et al. Zebrafish models of collagen VI-related myopathies. Hum Mol Genet 2010, 19:2433-2444.
22. Hicks D., Lampe A.K., Laval S.H., et al. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132(Pt 1):147-155.
23. Grumati P., Coletto L., Sandri M., et al. Autophagy induction rescues muscular dystrophy. Autophagy 2011, 7:426-428.
24. Scholte H.R., Busch H.F. Early changes of muscle mitochondria in Duchenne dystrophy. Partition and activity of mitochondrial enzymes in fractionated muscle of unaffected boys and adults and patients. J Neurol Sci 1980, 45:217-234.
25. Afifi A.K., Bergman R.A., Zellweger H. A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy. J Neurol Neurosurg Psychiatry 1973, 36:643-650.
26. 2+ in muscle cell damage. Ann N Y Acad Sci 2005, 1066:166-180.
27. Constantin B., Sebille S., Cognard C. New insights in the regulation of calcium transfers by muscle dystrophin-based cytoskeleton: Implications in DMD. J Muscle Res Cell Motil 2006, 27:375-386.
28. Menazza S., Blaauw B., Tiepolo T., et al. Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. Hum Mol Genet 2010, 19:4207-4215.
29. Even P.C., Decrouy A., Chinet A. Defective regulation of energy metabolism in mdx-mouse skeletal muscles. Biochem J 1994, 304:649-654.
30. Gannoun-Zaki L., Fournier-Bidoz S., Le Cam G., et al. Down-regulation of mitochondrial mRNAs in the mdx mouse model for Duchenne muscular dystrophy. FEBS Lett 1995, 375:268-272.
31. Godin R., Daussin F., Matecki S., et al. Peroxisome proliferator-activated receptor γ coactivator1- gene α transfer restores mitochondrial biomass and improves mitochondrial calcium handling in post-necrotic mdx mouse skeletal muscle. J Physiol 2012, 590:5487-5502.
32. Reutenauer J., Dorchies O.M., Patthey-Vuadens O., et al. Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy. Br J Pharmacol 2008, 155:574-584.
33. Millay D.P., Sargent M.A., Osinska H., et al. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med 2008, 14:442-447.
34. Jahnke V.E., Van Der Meulen J.H., Johnston H.K., et al. Metabolic remodeling agents show beneficial effects in the dystrophin-deficient mdx mouse model. Skelet Muscle 2012, 2:16.
35. Pauly M., Daussin F., Burelle Y., et al. AMPK activation stimulates autophagy and ameliorates muscular dystrophy in the mdx mouse diaphragm. Am J Pathol 2012, 181:583-592.
36. Percival J.M., Siegel M.P., Knowels G., et al. Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition. Hum Mol Genet 2013, 22:153-167.
37. Giacomotto J., Brouilly N., Walter L., et al. Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy. Hum Mol Genet 2013, 22:4562-4578.
38. Baron D., Magot A., Ramstein G., et al. Immune response and mitochondrial metabolism are commonly deregulated in DMD and aging skeletal muscle. PLoS One 2011, 6:e26952.
39. Pellegrini C., Zulian A., Gualandi F., et al. Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol 2013, 228:1323-1331.
40. Burelle Y., Khairallah M., Ascah A., et al. Alterations in mitochondrial function as a harbinger of cardiomyopathy: Lessons from the dystrophic heart. J Mol Cell Cardiol 2010, 48:310-321.
41. Calore E.E., Cavaliere M.J., Wakamatsu A., et al. An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy. Pathologica 1994, 86:649-651.
42. Gayathri N., Alefia R., Nalini A., et al. Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue. Indian J Pathol Microbiol 2011, 54:350-354.
43. Kramerova I., Beckmann J.S., Spencer M.J. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007, 1772:128-144.
44. Broglio L., Tentorio M., Cotelli M.S., et al. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist 2010, 16:340-352.
45. Kramerova I., Kudryashova E., Wu B., et al. Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. Hum Mol Genet 2009, 18:3194-3205.
46. Cohen N., Kudryashova E., Kramerova I., et al. Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice. Proteomics 2006, 6:6075-6084.
47. Mason K.E., Stofan D.A., Szweda L.I. Inhibition of very long chain acyl-CoA dehydrogenase during cardiac ischemia. Arch Biochem Biophys 2005, 437:138-143.
48. Turki A., Hayot M., Carnac G., et al. Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med 2012, 53:1068-1079.
49. Bird TD. Myotonic dystrophy type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al: (eds) GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from:. http://www.ncbi.nlm.nih.gov/books/NBK1165/.
50. Dalton JC, Ranum LPW, Day JW Myotonic dystrophy type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al: (eds) GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from:. http://www.ncbi.nlm.nih.gov/books/NBK1466/.
51. Rusconi F., Mancinelli E., Colombo G., et al. Proteome profile in myotonic dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. Neurobiol Dis 2010, 38:273-280.
52. Sewry C.A., Jimenez-Mallebrera C., Muntoni F. Congenital myopathies. Curr Opin Neurol 2008, 21:569-575.
53. Bevilacqua J.A., Bitoun M., Biancalana V., et al. Necklace fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol 2009, 117:283-291.
54. Hnia K., Tronchère H., Tomczak K.K., et al. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest 2011, 121:70-85.
55. Wanschit J., Nakano S., Goudeau B., et al. Myofibrillar (desmin-related) myopathy: Clinico-pathological spectrum in 3 cases and review of the literature. Clin Neuropathol 2002, 21:220-231.
56. Buj-Bello A., Fougerousse F., Schwab Y., et al. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet 2008, 17:2132-2143.
57. Durieux A.C., Vignaud A., Prudhon B., et al. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet 2010, 19:4820-4836.
58. Liu N., Bezprozvannaya S., Shelton J.M., et al. Mice lacking microRNA 133a develop dynamin 2-dependent centronuclear myopathy. J Clin Invest 2011, 121:3258-3268.
59. Herasse M., Parain K., Marty I., et al. Abnormal distribution of calcium-handling proteins: A novel distinctive marker in core myopathies. J Neuropathol Exp Neurol 2007, 66:57-65.
60. Jungbluth H., Sewry C.A., Muntoni F. Core myopathies. Semin Pediatr Neurol 2011, 18:239-249.
61. Talwalkar S.S., Parker J.R., Heffner R.R., et al. Adult central core disease. Clinical, histologic and genetic aspects: Case report and review of the literature. Clin Neuropathol 2006, 25:180-184.
62. Fidziańska A., Glinka Z. Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. Muscle Nerve 2012, 46:125-129.
63. Askanas V., Engel W.K., Nogalska A. Pathogenic considerations in sporadic inclusion-body myositis, a degenerative muscle disease associated with aging and abnormalities of myoproteostasis. J Neuropathol Exp Neurol 2012, 71:680-693.
64. Rifai Z., Welle S., Kamp C., et al. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol 1995, 37:24-29.
65. Schröder J.M., Molnar M. Mitochondrial abnormalities and peripheral neuropathy in inflammatory myopathy, especially inclusion body myositis. Mol Cell Biochem 1997, 174:277-281.
66. Oldfors A., Lindberg C. Inclusion body myositis. Curr Opin Neurol 1999, 12:527-533.
67. Oldfors A., Larsson N.G., Lindberg C., et al. Mitochondrial DNA deletions in inclusion body myositis. Brain 1993, 116:325-336.
68. Oldfors A, Moslemi AR, Jonasson L, et al: Mitochondrial abnormalities in inclusion-body myositis. Neurology. 66:S49-S55, 2006, (2 suppl 1).
69. Moslemi A.R., Lindberg C., Oldfors A. Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Hum Mutat 1997, 10:381-386.
70. Molnar M., Schröder J.M. Pleomorphic mitochondrial and different filamentous inclusions in inflammatory myopathies associated with mtDNA deletions. Acta Neuropathol 1998, 96:41-51.
71. Boncompagni S., Moussa C.E., Levy E., et al. Mitochondrial dysfunction in skeletal muscle of amyloid precursor protein-overexpressing mice. J Biol Chem 2012, 287:20534-20544.
72. Eisenberg I., Novershtern N., Itzhaki Z., et al. Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet 2008, 17:3663-3674.
73. Bartolome F., Wu H.C., Burchell V.S., et al. Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron 2013, 78:57-64.
74. Temiz P., Weihl C.C., Pestronk A. Inflammatory myopathies with mitochondrial pathology and protein aggregates. J Neurol Sci 2009, 278:25-29.
75. Pestronk A. Acquired immune and inflammatory myopathies: Pathologic classification. Curr Opin Rheumatol 2011, 23:595-604.
76. Siepmann T., Tesch M., Krause F., et al. Polymyositis with cytochrome c oxidase negative fibers-a pathological and clinical challenge. Ann Diagn Pathol 2013, 17:183-186.
77. Trounce I., Byrne E., Marzuki S. Decline in skeletal muscle mitochondrial respiratory chain function: Possible factor in aging. Lancet 1989, 1:637-639.
78. Mhiri C., Baudrimont M., Bonne G., et al. Zidovudine myopathy: A distinctive disorder associated with mitochondrial dysfunction. Ann Neurol 1991, 29:606.
79. Arnaudo E., Dalakas M., Shanske S., et al. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 1991, 337:508-510.
80. Dobkin B.H., Verity M.A. Familial progressive bulbar and spinal muscular atrophy. Juvenile onset and late morbidity with ragged-red fibers. Neurology 1976, 26:754-763.
81. Gobernado J.M., Gosalvez M., Cortina C., et al. Mitochondrial functions in chronic spinal muscular atrophy. J Neurol Neurosurg Psychiatry 1980, 43:546-549.
82. Berger A., Mayr J.A., Meierhofer D., et al. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 2003, 105:245-251.
83. Mancuso M., Filosto M., Hirano M., DiMauro S. Spinal muscular atrophy and mitochondrial DNA depletion. Acta Neuropathol 2003, 105:621-622. (letter).
84. Pons R., Andreetta F., Wang C.H., et al. Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol 1996, 15:153-158.
85. Mancuso M., Salviati L., Sacconi S., et al. Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002, 59:1197-1202.
86. Rubio-Gozalbo M.E., Smeitink J.A., Ruitenbeek W., et al. Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. Neurology 1999, 52:383-386.
87. Poulton J., Sewry C., Potter C.G., et al. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?. J Inherit Metab Dis 1995, 18:4-20.
88. Hirano M., Angelini C., Montagna P., et al. Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 2008, 65:403-406.
89. Ranganathan S., Harmison G.G., Meyertholen K., et al. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 2009, 18:27-42.
90. Nomura H., Koike F., Tsuruta Y., et al. Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. Neuropathology 2001, 21:212-217.
91. Wiedemann F.R., Winkler K., Kuznetsov A.V., et al. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci 1998, 156:65-72.
92. Vielhaber S., Winkler K., Kirches E., et al. Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 1999, 169:133-139.
93. Corti S., Donadoni C., Ronchi D., et al. Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. J Neurol Sci 2009, 276:170-174.
94. Hervias I., Beal M.F., Manfredi G. Mitochondrial dysfunction and amyotrophic lateral sclerosis. Muscle Nerve 2006, 33:598-608.
95. Crugnola V., Lamperti C., Lucchini V., et al. Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol 2010, 67:849-854.
96. Krasnianski A., Deschauer M., Neudecker S., et al. Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies. Brain 2005, 128:1870-1876.
97. Palau F., Estela A., Pla-Martín D., et al. The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease. Adv Exp Med Biol 2009, 652:129-137.
98. Frank S. Dysregulation of mitochondrial fusion and fission: An emerging concept in neurodegeneration. Acta Neuropathol 2006, 111:93-100.
99. Baloh R.H. Mitochondrial dynamics and peripheral neuropathy. Neuroscientist 2008, 14:12-18.
100. Chen H., Chan D.C. Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases. Hum Mol Genet 2009, 18:169-176.
101. Karbowski M., Arnoult D., Chen H., et al. Quantitation of mitochondrial dynamics by photolabeling of individual organelles shows that mitochondrial fusion is blocked during the Bax activation phase of apoptosis. J Cell Biol 2004, 164:493-499.
102. Milone M., Benarroch E.E. Mitochondrial dynamics: General concepts and clinical implications. Neurology 2012, 78:1612-1619.
103. Viader A., Sasaki Y., Kim S., et al. Aberrant Schwann cell lipid metabolism linked to mitochondrial deficits leads to axon degeneration and neuropathy. Neuron 2013, 77:886-898.
104. Zorzano A., Sebastián D., Segalés J., et al. The molecular machinery of mitochondrial fusion and fission: An opportunity for drug discovery?. Curr Opin Drug Discov Devel 2009, 12:597-606.
105. Herzig S., Martinou J.C. Mitochondrial dynamics: To be in good shape to survive. Curr Mol Med 2008, 8:131-137.
106. Züchner S., Mersiyanova I.V., Muglia M., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004, 36:449-451.
107. Cartoni R., Martinou J.C. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2 A. Exp Neurol 2009, 218:268-273.
108. Ouvrier R., Grew S. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: An important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol 2010, 52:328-330.
109. Niemann A., Berger P., Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8:217-242.
110. Berger P., Niemann A., Suter U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 2006, 54:243-257.
111. Huber N., Guimaraes S., Schrader M., et al. Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission. EMBO Rep 2013, 14:545-552.
112. Eschbach J., Sinniger J., Bouitbir J., et al. Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Neurobiol Dis 2013, 58:220-230.
113. Katsetos C.D., Anni H., Dráber P. Mitochondrial dysfunction in gliomas. Semin Pediatr Neurol 2013, 20:216-227.
114. Tinelli E., Pereira J.A., Suter U. Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions, and peripheral nerves. Hum Mol Genet 2013, 22:4417-4429.
115. González-Cabo P., Palau F. Mitochondrial pathophysiology in Friedreich's ataxia. J Neurochem 2013, 126(suppl 1):53-64.
116. Bencze K.Z., Kondapalli K.C., Cook J.D., et al. The structure and function of frataxin. Crit Rev Biochem Mol Biol 2006, 41:269-291.
117. Leinninger G.M., Edwards J.L., Lipshaw M.J., et al. Mechanisms of disease: Mitochondria as new therapeutic targets in diabetic neuropathy. Nat Clin Pract Neurol 2006, 2:620-628.
118. 2+ dyshomeostasis drive neuronal pathology in diabetes. Cell Calcium 2008, 44:112-122.
119. Chowdhury S.K., Dobrowsky R.T., Fernyhough P. Nutrient excess and altered mitochondrial proteome and function contribute to neurodegeneration in diabetes. Mitochondrion 2011, 11:845-854.
120. Chowdhury S.K., Smith D.R., Fernyhough P. The role of aberrant mitochondrial bioenergetics in diabetic neuropathy. Neurobiol Dis 2013, 51:56-65.
121. Zenker J., Ziegler D., Chrast R. Novel pathogenic pathways in diabetic neuropathy. Trends Neurosci 2013, 36:439-449.
122. Tecilazich F., Dinh T., Lyons T.E., et al. Postexercise phosphocreatine recovery, an index of mitochondrial oxidative phosphorylation, is reduced in diabetic patients with lower extremity complications. J Vasc Surg 2013, 57:997-1005.
123. Bennett G.J. Pathophysiology and animal models of cancer-related painful peripheral neuropathy. Oncologist 2010, 15(suppl 2):9-12.
124. Jaggi A.S., Singh N. Mechanisms in cancer-chemotherapeutic drugs-induced peripheral neuropathy. Toxicology 2012, 291:1-9.
125. Ferrier J., Pereira V., Busserolles J., et al. Emerging trends in understanding chemotherapy-induced peripheral neuropathy. Curr Pain Headache Rep 2013, 17:364.
126. Nicolson G.L., Conklin K.A. Reversing mitochondrial dysfunction, fatigue and the adverse effects of chemotherapy of metastatic disease by molecular replacement therapy. Clin Exp Metastasis 2008, 25:161-169.
127. Janes K., Doyle T., Bryant L., et al. Bioenergetic deficits in peripheral nerve sensory axons during chemotherapy-induced neuropathic pain resulting from peroxynitrite-mediated post-translational nitration of mitochondrial superoxide dismutase. Pain 2013, 13:400-404. [pii: S0304-3959].
128. Nasu S., Misawa S., Nakaseko C., et al. Bortezomib-induced neuropathy: Axonal membrane depolarization precedes development of neuropathy. Clin Neurophysiol 2013, 13:972-973. [pii: S1388-2457].
129. Moyle G. Mitochondrial toxicity: Myths and facts. J HIV Ther 2004, 9:45-47.
130. Cossarizza A., Moyle G. Antiretroviral nucleoside and nucleotide analogues and mitochondria. AIDS 2004, 18:137-151.
131. Gardner K, Hall PA, Chinnery PF, et al: HIV treatment and associated mitochondrial pathology: Review of 25 years of in vitro, animal, and human studies. Toxicol Pathol 2013 Sep 25. [Epub ahead of print].
132. Moyle G. Mechanisms of HIV and nucleoside reverse transcriptase inhibitor injury to mitochondria. Antivir Ther 2005, 10(suppl 2):M47-M52.